Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.K297R
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HP

NM_005143.5:p.K297R

Associated Papers

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Felzen A et al.

Jhep Reports : Innovation in Hepatology, 2023

36687469 (PubMed )
Supplement: mmc4.pdf
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